Literature DB >> 2560098

Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome.

H Kodama1, I Okabe, M Yanagisawa, Y Kodama.   

Abstract

The mitochondrial copper concentrations and cytochrome C oxidase activity of the fibroblasts from the patients with Menkes syndrome were investigated. Both the mitochondrial copper concentrations and cytochrome C oxidase activity of fibroblasts from patients with Menkes syndrome were lower than those of the control fibroblasts. These data indicate that the mitochondria of fibroblasts from patients with Menkes syndrome are in a state of copper deficiency. The activity decline of cytochrome C oxidase, a mitochondrial cuproenzyme, seems to be caused by copper deficiency in the mitochondria.

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Year:  1989        PMID： 2560098     DOI： 10.1007/BF01802032

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  12 in total

1.  Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.

Authors:  S Miyabayashi; T Ito; K Narisawa; K Iinuma; K Tada
Journal:  Eur J Pediatr       Date:  1985-03       Impact factor: 3.183

2.  Menkes' kinky hair disease: further definition of the defect in copper transport.

Authors:  D M Danks; E Cartwright; B J Stevens; R R Townley
Journal:  Science       Date:  1973-03-16       Impact factor: 47.728

3.  Metallothionein messenger RNA regulation in the mottled mouse and Menkes kinky hair syndrome.

Authors:  S Packman; R D Palmiter; M Karin; C O'Toole
Journal:  J Clin Invest       Date:  1987-05       Impact factor: 14.808

4.  Menkes' disease: abnormal metallothionein gene regulation in response to copper.

Authors:  A Leone; G N Pavlakis; D H Hamer
Journal:  Cell       Date:  1985-02       Impact factor: 41.582

5.  Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome.

Authors:  P M Royce; J Camakaris; D M Danks
Journal:  Biochem J       Date:  1980-11-15       Impact factor: 3.857

6.  Cell culture studies of Menkes kinky hair disease.

Authors:  W Y Chan; A D Garnica; O M Rennert
Journal:  Clin Chim Acta       Date:  1978-09-15       Impact factor: 3.786

7.  Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis.

Authors:  J H Glaser; W S Sly
Journal:  J Lab Clin Med       Date:  1973-12

8.  Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia.

Authors:  W J Rhead; K Tanaka
Journal:  Proc Natl Acad Sci U S A       Date:  1980-01       Impact factor: 11.205

9.  Copper utilization in cultured skin fibroblasts of the mottled mouse, an animal model for Menkes' kinky hair syndrome.

Authors:  S Packman; P Chin; C O'Toole
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

10.  Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants.

Authors:  J Camakaris; D M Danks; L Ackland; E Cartwright; P Borger; R G Cotton
Journal:  Biochem Genet       Date:  1980-02       Impact factor: 1.890
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  10 in total

Review 1.  Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.

Authors:  Stephanie Zlatic; Heather Skye Comstra; Avanti Gokhale; Michael J Petris; Victor Faundez
Journal:  Neurobiol Dis       Date:  2015-01-10       Impact factor: 5.996

2.  Effect of medium copper concentration on the growth, uptake and intracellular balance of copper and zinc in Menkes' and normal control cells.

Authors:  M H Rayner; K T Suzuki
Journal:  Biometals       Date:  1994-07       Impact factor: 2.949

Review 3.  Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.

Authors:  Aude Beyens; Lore Pottie; Patrick Sips; Bert Callewaert
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

Review 4.  Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.

Authors:  P de Bie; P Muller; C Wijmenga; L W J Klomp
Journal:  J Med Genet       Date:  2007-08-23       Impact factor: 6.318

5.  Sibling cases of a degenerative neurological disease associated with hypocupraemia and hypobetalipoproteinaemia.

Authors:  Y Iwakawa; M Shimohira; J Kohyama; H Kodama
Journal:  Eur J Pediatr       Date:  1993-04       Impact factor: 3.183

6.  Genetic expression of Menkes disease in cultured astrocytes of the macular mouse.

Authors:  H Kodama; Y Meguro; T Abe; M H Rayner; K T Suzuki; S Kobayashi; M Nishimura
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 7.  Recent developments in Menkes disease.

Authors:  H Kodama
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

8.  Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.

Authors:  F Habarou; A Brassier; M Rio; D Chrétien; S Monnot; V Barbier; R Barouki; J P Bonnefont; N Boddaert; B Chadefaux-Vekemans; L Le Moyec; J Bastin; C Ottolenghi; P de Lonlay
Journal:  Mol Genet Metab Rep       Date:  2014-11-28

9.  Urological Problems in Patients with Menkes Disease.

Authors:  Mi Young Kim; Ji Hyun Kim; Myung Hyun Cho; Young Hun Choi; Seong Heon Kim; Young Jae Im; Kwanjin Park; Hee Gyung Kang; Jong-Hee Chae; Hae Il Cheong
Journal:  J Korean Med Sci       Date:  2018-12-26       Impact factor: 5.354

Review 10.  Mitochondria in skin health, aging, and disease.

Authors:  Annapoorna Sreedhar; Leopoldo Aguilera-Aguirre; Keshav K Singh
Journal:  Cell Death Dis       Date:  2020-06-09       Impact factor: 8.469
  10 in total

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